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Article

Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

Genomics - 1 Sept 1995

Westberg J, Fredrikson G N, Truedsson L, Sjöholm A G, Uhlén M

Abstract excerpt

Properdin deficiency is an inherited X-linked disorder causing increased susceptibility to meningococcal disease. Here, underlying genetic defects in the properdin gene were identified for the first time. Samples from individuals with type I deficiency, defined as complete absence of properdin in serum, and individuals with type II deficiency, characterized by low concentrations of properdin in serum, were...

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Identifiers

PMID: 8530058
DOI: 10.1006/geno.1995.1208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.PMID 8530058Read ↗

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Human properdin deficiency has a heterogeneous genetic background.Semantic proximity Read ↗

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Properdin deficiency and meningococcal disease—identifying those most at riskSemantic proximity Read ↗

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Characterization of mutant forms of recombinant human properdin lacking single thrombospondin type I repeats. Identification of modules important for function.Semantic proximity Read ↗

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